Growth hormone deficiency risk factors

The risk factors for growth hormone deficiency is due to the mutations involving the POU1F1 gene, GH1 gene, IGF-I gene. GH receptor signal transduction, syndrome of bioinactive GH and growth hormone insensitivity.

• Growth hormone insensitivity is an absence of the effects of growth hormone despite a normal production of GH.^[1]
• It is caused by mutations in the growth hormone receptor gene which affects the GH-binding of the receptor.
• Its severity correlates to IGF-I and insulin-like growth factor-binding protein 3 (IGFBP-3) levels.

• It is the most common known genetic cause of the combined pituitary hormone deficiency.^[2]
• It is responsible for pituitary-specific transcription of genes for GH, prolactin, thyrotropin, and the growth hormone-releasing hormone (GHRH) receptor.^[3]
• PROP1 mutations result in failure to activate POU1F1/Pit1 gene expression and probably cause pituitary hypoplasia.^[4]

• It is GH1 is the gene encoding GH, located on chromosome 17.
• Gene deletions, frameshift mutations, and nonsense mutations of GH1 have been described as causes of familial GHD.

• Bioinactive GH has the main symptoms and signs of isolated GHD with normal basal GH levels and low insulin-like growth factor I concentrations.^[5]

• It is essential for normal signaling of the GH receptor. Mutations in the gene encoding signal transducer decrease the response of receptors to GH.^[6]

• Mutations in the gene encoding IGF-I cause a unique syndrome of GHD.^[7]
• Patients with IGF-I gene mutations have prenatal growth failure, microcephaly, significant neurocognitive deficits, and sensorineural hearing loss.

• Acid-labile subunit is important for the stabilization of the IGF-I.
• Mutations in the gene coding for it causes less stable and subsequently less effect.^[8]

Template:WH Template:WS